Varaico: Literature-Extracted Genetic Variants

Gene:ENG
Variant:p.Q110Q

ENG

734 papers

RefSeq Summary

This gene encodes a homodimeric transmembrane protein which is a major glycoprotein of the vascular endothelium. This protein is a component of the transforming growth factor beta receptor complex and...

Pfam Domains

TGFBR3_Naa 45–198UCSCTGFBR3-like, N-terminal domain

Gene Aliases

HGNC Name

endoglin

HGNC Previous Symbols

ORW1; ORW

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001114753.3
p.Q110Q
c.330G>A
Surrounding Variants
1 paper
NM_001114753.3
p.A111S
c.331G>T
1 paper
NM_001114753.3
p.A111T
c.331G>A
1 paper
NM_001114753.3
p.A111D
c.332C>A
2 papers
NM_001114753.3
p.A111fs
c.331_332fs
1 paper
NM_001114753.3
p.Q110_L112del0
c.329_334del6
1 paper
NM_001114753.3
p.H108insFs
c.324dupT
1 paper
NM_001114753.3
p.L112fs
c.334_335fs
1 paper
NM_001114753.3
p.G113E
c.338G>A
4 papers
NM_001114753.3
p.H108Y
c.322C>T
3 papers
NM_001114753.3
p.L107_H108delins
c.321_322delinsTT
1 paper
NM_001114753.3
p.G113delFs
c.338delC
2 papers
NM_001114753.3
p.A111_G113delFs
c.332_338del7
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."